Association of breast cancer risk with genetic variants showing differential allelic expression
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Association of breast cancer risk with genetic variants showing differential allelic expression : Identification of a novel breast cancer susceptibility locus at 4q21. / Hamdi, Yosr; Soucy, Penny; Adoue, Véronique; Michailidou, Kyriaki; Canisius, Sander; Lemaçon, Audrey; Droit, Arnaud; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Baynes, Caroline; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brand, Judith S; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Burwinkel, Barbara; Chang-Claude, Jenny; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dos-Santos-Silva, Isabel; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; García-Closas, Montserrat; Giles, Graham; Goldberg, Mark S; González-Neira, Anna; Grenaker Alnæs, Grethe; Guénel, Pascal; Haeberle, Lothar; Haiman, Christopher A; Hamann, Ute; Hallberg, Emily; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jones, Michael; Kabisch, Maria; Kataja, Vesa; Lambrechts, Diether; Le Marchand, Loic; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Maranian, Mel J; Margolin, Sara; Marme, Frederik; Milne, Roger L; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olswold, Curtis; Peto, Julian; Plaseska-Karanfilska, Dijana; Pylkäs, Katri; Radice, Paolo; Rudolph, Anja; Sawyer, Elinor J; Schmidt, Marjanka K; Shu, Xiao-Ou; Southey, Melissa C; Swerdlow, Anthony; Tollenaar, Rob A E M; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine; Ouweland, Ans M W van der; Wang, Qin; Winqvist, Robert; Zheng, Wei; Benitez, Javier; Chenevix-Trench, Georgia; Dunning, Alison M; Pharoah, Paul D P; Kristensen, Vessela; Hall, Per; Easton, Douglas F; Pastinen, Tomi; Nord, Silje; Simard, Jacques; NBCS Collaborators.
in: ONCOTARGET, Jahrgang 7, Nr. 49, 06.12.2016, S. 80140-80163.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Association of breast cancer risk with genetic variants showing differential allelic expression
T2 - Identification of a novel breast cancer susceptibility locus at 4q21
AU - Hamdi, Yosr
AU - Soucy, Penny
AU - Adoue, Véronique
AU - Michailidou, Kyriaki
AU - Canisius, Sander
AU - Lemaçon, Audrey
AU - Droit, Arnaud
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Arndt, Volker
AU - Baynes, Caroline
AU - Blomqvist, Carl
AU - Bogdanova, Natalia V
AU - Bojesen, Stig E
AU - Bolla, Manjeet K
AU - Bonanni, Bernardo
AU - Borresen-Dale, Anne-Lise
AU - Brand, Judith S
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Broeks, Annegien
AU - Burwinkel, Barbara
AU - Chang-Claude, Jenny
AU - Couch, Fergus J
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Darabi, Hatef
AU - Dennis, Joe
AU - Devilee, Peter
AU - Dörk, Thilo
AU - Dos-Santos-Silva, Isabel
AU - Eriksson, Mikael
AU - Fasching, Peter A
AU - Figueroa, Jonine
AU - Flyger, Henrik
AU - García-Closas, Montserrat
AU - Giles, Graham
AU - Goldberg, Mark S
AU - González-Neira, Anna
AU - Grenaker Alnæs, Grethe
AU - Guénel, Pascal
AU - Haeberle, Lothar
AU - Haiman, Christopher A
AU - Hamann, Ute
AU - Hallberg, Emily
AU - Hooning, Maartje J
AU - Hopper, John L
AU - Jakubowska, Anna
AU - Jones, Michael
AU - Kabisch, Maria
AU - Kataja, Vesa
AU - Lambrechts, Diether
AU - Le Marchand, Loic
AU - Lindblom, Annika
AU - Lubinski, Jan
AU - Mannermaa, Arto
AU - Maranian, Mel J
AU - Margolin, Sara
AU - Marme, Frederik
AU - Milne, Roger L
AU - Neuhausen, Susan L
AU - Nevanlinna, Heli
AU - Neven, Patrick
AU - Olswold, Curtis
AU - Peto, Julian
AU - Plaseska-Karanfilska, Dijana
AU - Pylkäs, Katri
AU - Radice, Paolo
AU - Rudolph, Anja
AU - Sawyer, Elinor J
AU - Schmidt, Marjanka K
AU - Shu, Xiao-Ou
AU - Southey, Melissa C
AU - Swerdlow, Anthony
AU - Tollenaar, Rob A E M
AU - Tomlinson, Ian
AU - Torres, Diana
AU - Truong, Thérèse
AU - Vachon, Celine
AU - Ouweland, Ans M W van der
AU - Wang, Qin
AU - Winqvist, Robert
AU - Zheng, Wei
AU - Benitez, Javier
AU - Chenevix-Trench, Georgia
AU - Dunning, Alison M
AU - Pharoah, Paul D P
AU - Kristensen, Vessela
AU - Hall, Per
AU - Easton, Douglas F
AU - Pastinen, Tomi
AU - Nord, Silje
AU - Simard, Jacques
AU - NBCS Collaborators
PY - 2016/12/6
Y1 - 2016/12/6
N2 - There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.
AB - There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.
KW - Journal Article
U2 - 10.18632/oncotarget.12818
DO - 10.18632/oncotarget.12818
M3 - SCORING: Journal article
C2 - 27792995
VL - 7
SP - 80140
EP - 80163
JO - ONCOTARGET
JF - ONCOTARGET
SN - 1949-2553
IS - 49
ER -